Marfact #23 and 24 + My lens journey: Part 3

In honor of Marfan Syndrome awareness month, here are Marfacts 23 and 24 (provided by the wonderful Marfan Foundation
and Maya over at Marfmom respectively).

Marfact #23: Related conditions that have signs and treatments that somewhat overlap with Marfan syndrome include Loeys‐Dietz syndrome, Ehlers‐Danlos syndrome, Beals syndrome and MASS phenotype. The differences are critical so it’s important to get the right diagnosis.

Marfact #24: Do you know the signs of a pneumothorax and how to treat it? A pneumothorax is “a collection of air or gas in the space between the lungs and the chest that “collapses” the lung and prevents it from inflating completely.” It’s an emergency situation, although usually not life-threatening. http://marfan.org/marfan/2444/Lung-Emergencies/

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My lens journey part 3:

Part 2

The day after surgery I woke up in a tremendous amount of pain. It hurt pretty severely to look anywhere, but if one eye moves so does the other, so it was almost entirely unavoidable. When we got to the eye doctor’s for my post surgery checkup (with a surgeon’s helper, not my actual surgeon) I was very agitated in a way that I never am. But I had done this 5 times before and I knew the drill: they were going to take off my patch and hold open my eyelid, shine a light in it, put drops in it – all things that I usually wouldn’t bat an eyelash at. But, this time I was in so much pain that the thought made my stomach turn – and it turned out to be for good reason. The pain I felt just from the weight of that tiny drop hitting my eye was enough to make me tear up and cry out.

Something was definitely wrong. Never had I ever experienced even a fraction of this much pain after a surgery. At this point I’d been living with a lot of pain every single day for the past 3 years and I was pretty good at handling it, but this pain was frightening in it’s severity. Lucky for me that I didn’t know how much worse things were about to get or I wouldn’t have been able to find the courage to carry myself towards them.

To find out what was wrong I would need an ultrasound on my eye. My eye that was still mushy and flat from the previous day’s surgerywhere there were stitches sticking out everywhere and fresh wounds, and where the weight of a tiny drop was followed by a shocking amount of pain. I thought to myself there’s no way. But yes, that’s exactly what they were going to do.

As they explained the procedure I wanted so badly to run as far away from there as I could. But what do you do? If I didn’t get the ultrasound they wouldn’t be able to figure out what was wrong, and then what? I couldn’t risk losing my vision because I was scared. It had to be done, which I guess is what made it so doable. That being said, the 20 minutes it took seemed to drag on for hours. My fingers hurt from gripping the chair arms so hard. I stayed silent with my jaw locked tight and kept every muscle in my body tensed to the point of exhaustion – I couldn’t help it. Up until that point I had never been in that much pain in my entire life. You know that horrible, intense shooting pain that you get in your eyes sometimes during brain freeze? The pain was a lot like that, only worse and for 20 minutes straight.

But, what the ultrasound revealed was that my eye had hemorrhaged and was severely inflamed. This explained the amount of pain that I was in and if left untreated could have severely and irreversibly damaged my eye. I was immediately put on a high dose of steroid drops four times a day (more misery), along with steroid tablets to help the healing and zantac to protect my stomach from the steroids themselves. I was also on a few other drops that I always take after surgery starting four times a day everyday.

After all was said and done I spent the rest of the day a bit traumatized by everything, but I was also impressed with myself for handling it – not that I had much of a choice. It’s pretty amazing though: just how much pain we can endure when there’s no other options. Things were still a bit difficult from there on out. Because of the complications my eye was taking a much longer time to heal than it ever had before. I was impatient with the slow progress – I wanted to know how my vision would turn out this time around and if it would be like it had been before the past two surgeries.

I can say now that I wish things had turned out differently. After all of the pain and worry; the drops, the traveling, the money; this surgery turned out worse than the last one. While I didn’t have the floppy iris anymore, I now had severe double vision and the acuity of my vision itself had decreased considerably. I could no longer read nearly as well as I had been able to or see close up things a fraction of how I had (my left eye is my nearsighted eye). It was all so frustrating. I couldn’t understand why everything had gone wrong when I used to breeze through the same surgeries like they were nothing. I was also inescapably terrified that my right lens would soon dislocate too and that I’d have to go through it all over again.

Coma

This is an example of how the double vision in my left eye looks (the center and far right images) compared to my previously normal vision (far left).

Part 4

Marfact #21 and 22 + My lens journey: Part 2

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #21: People with Marfan syndrome are at an up to 250 times greater risk of aortic dissection than the general population.

Marfact #22: Marfan syndrome can affect many parts of the body, but has “variable expression,” so each person is affected differently, even in the same family. While there are features that are frequently seen in many people with the disorder (such as tall, thin stature, disproportionately long arms and legs), not all people exhibit these features.

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I’m actually going to be splitting this into 4 parts because of how long it actually is once I sit down to write it.

Part 1

About a week after my 16th birthday my life changed – and I will never mean this more literally – in the blink of an eye. Meaning that I blinked and all of a sudden the vision in my left eye was entirely blurry. I knew what had happened immediately: my vision was identical to when I had no lenses at all and would take off my glasses. My implant had dislocated and I was devastated. At the time we had been told that should anything ever happen to my lens implants that they would likely have to be removed and that would be that.

My eye surgeon wasn’t available for a week, and because of the risk of my lens implant lodging in my pupil and causing serious problems I had to spend that entire week sleeping practically upright to keep it from doing so. This coupled with thinking that I had just lost one of the most precious things I had, made it a pretty long and melancholy 7 days. To my enormous relief though, my eye surgeon decided to re-attach my lens instead of removing it. I wish that had been the end of it, but it wasn’t.

My eye healed quickly and very minimally painful as they always have, but once my vision began to come back I noticed that every time I moved my eye everything in my field of vision would bounce. Mom and I left Vancouver and made the 8 hour trip home hoping that as my eye continued to heal this would go away, but it didn’t. I went to my local optometrist for a post operative check and was told that the cause of the bouncy vision was “Floppy Iris Syndrome”. As far as he could tell my lens implant was reattached further back this time to help keep it from rubbing on my iris as it had before, but now it was too far back and not supporting my iris at all, causing it to “flop”.

6th Eye Surgery

My eyes a month and a half after surgery #5 and a day before surgery #6.

So, about a month and a half after surgery #5 – my eye red and still not fully healed – we headed back to Vancouver for another operation. This time it was decided that he would replace my lens entirely with a new one (a bigger and riskier surgery) and for the first time ever before an operation I felt dread. I was hoping that because he would be replacing my lens this time that things would be better but when I woke up my mom told me that it had been decided during surgery that my old lens would be reattached instead of replaced as it had last time. Aside from that, right away things felt different this time when I woke up than it ever had after the previous surgeries. And though it wasn’t unmanageable, my pain level was a lot higher than it had ever been following eye surgery.

It was the day after though, that I ended up going through one of the hardest things I’ve ever been through.

Marfact #20 + My lens journey: Part 1

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #20: Eye problems associated with Marfan Syndrome include early nearsightedness, early glaucoma, lens dislocation and retinal detachment. Treating eye problems early is key to maintaining quality of life.

Visit www.marfan.org for more information.

*I’m splitting this post into two parts because it’s a bit of a long story.

Lens dislocation and the complications that come with it is something that I’ve dealt with in some capacity my entire life. I was 4 years old when I was diagnosed with ectopia lentis and not long after that I was undergoing the first two of seven eye surgeries because of it. These early surgeries were done in order to remove the lenses and fit me with highly magnified bifocal glasses. I hated those glasses with a passion for how they made me look, but at the same time I was actually seeing the world for the first time in my entire life.

When I was 10 years old my dream of ditching the glasses and being able to see out of my own eyes, without any vision aids, finally came true when it was decided that I was a good candidate for lens implants. And so, it was with surgeries number 3 and 4 that I received one of the most amazing gifts I could have ever imagined. Things were relatively calm for the first few years afterwards but then I gradually began getting unexplained bouts of Iritis and Uveitis that would cloud up my vision, as if I was looking through a frosted window. These episodes were gradually becoming more frequent and severe, until one day I woke up without being able to see anything out of one eye and subsequently landing in the ER, wondering if I had gone permanently blind in that eye.

It turned out that my lenses were rubbing on my irises, causing tiny pieces of them to flake off. This would then clog my pupils, disallowing any fluid to escape and causing the pressure within my eye to skyrocket. To remedy this without trying to re-position my lenses my ophthalmologist decided to use a YAG laser to make a small hole in each of my eyes, underneath my upper eyelid (too small to see) so that if my pupil did become blocked there would still be a way for the pressure within my eye to escape. And, although the procedure itself was really unpleasant because my eyes wouldn’t freeze properly and I could feel the holes being burned, it ended up working really well and afterwards the episodes dissipated entirely.

Part 2

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Marfacts: 18 + 19

Marfan Awareness

This story tragically highlights why it’s so important to raise awareness about Marfan Syndrome: so no other families have to suffer this same devastating loss, and so no more lives are cut short needlessly. I dream of a day when there are no more stories like this one. My heart goes out to Stevie’s family and friends, as well as all of the other families who’ve lost a loved one this way.

In honor of Marfan Syndrome awareness month, here’s yesterday and today’s Marfacts (provided by the wonderful Marfan Foundation and Marfmom).

Marfact #18: While there is no cure for Marfan syndrome, continuing advances in medical care and research are helping people with the disorder live longer and enjoy a better quality of life.

Marfact #19 (courtesy of the awesome Maya over at Marfmom): Consistent monitoring of the heart and aorta is vital for patients with Marfan syndrome. This leads to a greater likelihood of preventative surgery, which has better outcomes than emergency surgery after a dissection (tear of the aorta) has taken place. Most people with Marfan are on some sort of medication to keep their blood pressure very low in order to slow the growth of the aorta. Typically this is a beta blocker, but ARBs like losartan and irbersartan are currently being researched as well.

If you suspect that you or a family member may have Marfan Syndrome or a similar connective tissue disorder, please get evaluated by a medical professional (who is familiar with these disorders). Visit www.marfan.org for more information.

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Marfact #17 and if I had known earlier.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #17: People with Marfan syndrome should not play competitive or contact sports because of the effect on the fragile aorta, as well as the pressure they put on the fragile bones and joints

Visit www.marfan.org for more information.

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This is something that would have been different for me growing up, if I had gotten the diagnosis of Marfan Syndrome earlier in life. I loved sports in school and participated in any school sports team that I could. I also played a lot of games of dodge-ball that probably should have been avoided for someone with my tissue disorder.

Looking back on it, even without the diagnosis of Marfan Syndrome, my history of lens dislocation and implants should’ve taken things like dodgeball out of my physical education curriculum. But, even the eye surgeon who did all of my previous surgeries never suggested that I avoid sports, contact or otherwise in the long run.

I can remember getting hit in the head more than once with a dodge-ball or volleyball in school, and on one particularly rough occasion that it precipitated one of my earliest instances of Iritis. I think it was either later that night or the next day that the vision in one of my eyes began to cloud over and fill with thousands of tiny floating dots.

Obvious risks aside, because of how much I loved sports in school and how much they meant to me, I can’t help but be glad that I was able to participate in them growing up. Don’t get me wrong, if I had known the risks I wouldn’t have done it and I’m extremely thankful that nothing too bad came of it, but it was still nice while it lasted.

I do often wonder though, if those instances and injuries may have contributed to my lens implants dislocating later in life. Or even some of the particularly weak tissue I have in certain joints. It was right around when I started joining the school’s basketball and volleyball teams that my first tissue injury and chronic pain started (a painful ganglion in my left foot at 10). But I guess I’ll never know for certain how things would’ve or could’ve turned out under different circumstances.

Marfact #16, quality of life, and thanks!

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #16: There is no cure for Marfan syndrome. However, a range of treatment options can reduce and sometimes prevent complications.

When the words Marfan Syndrome were first mentioned to my parents as something that I could potentially have they carried with them a very bleak and devastating outcome. It was thought that should I have the syndrome I would likely only live long enough to become a young adult at best. Today however, because of the treatment options offered – mainly where our cardiovascular systems are concerned – and the ever-expanding knowledge of connective tissue disorders, our lifespans are now on average the same as those in the general population.

It’s truly amazing how much things can change in the span of 20 years. Length of life isn’t so much of a worry anymore, but with that instead comes the increasing fear of quality of life. Our faulty connective tissue now has far longer to carry us than it ever has before. It’s scary to think about what kind of shape I’ll be in physically or how much more the chronic pain will have increased a year from now, never mind 40 years from now.

But, fears for the future aside, I’m extremely thankful that I live in a time where so much is available to us medically. And, if that much can change in 20 or 30 years who knows what treatment options we’ll have in another decade or two.

Visit www.marfan.org for more information.

I want to thank the Marfan Foundation for supporting Tissue Tales and sharing it on their Facebook page. I have so much love and appreciation for all that they have done and continue to do for those of us who live with connective tissue disorders and to have their support where this blog is concerned is an enormous honor.

And a ton of thanks to the wonderful Ben for his reblogs of the Marfacts! Please do stop by Ben’s awesome blog and have a read – and a look at his art. You’ll be glad that you did!

Marfact #15, genes, and connective tissue disorders.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #15: Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin‐1 ‐‐ a protein that is an important part of connective tissue.

While Marfan Syndrome affects connective tissue through it’s influence on fibrillin, the connective tissue faults found in Ehlers-Danlos Syndrome are instead due to mutations affecting the body’s collagen. Both fibrillin and collagen are very important in the function of our body’s connective tissue.

Also, connective tissue disorder causing genetic mutations have been found and identified on the gene that tells the body how to make fibrillin-2. This ties into what I was saying before about the complexity of our genes and connective tissue and how we’re still in the process of learning so much about both.

When I had my genetic test done they only looked for mutations affecting fibrillin-1. The test is pretty expensive and in my case the cost was only covered for that specific gene (and only after my aortic root started becoming enlarged). That’s one of the reasons that we weren’t overly surprised when the test came back negative.

For now I’m alright not having the test done on any of the other genes but it’s definitely something that may be worth considering more in the future.

Visit www.marfan.org for more information.

Know the signs; save a life.

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Marfact #14 and MFS in my family.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #14: About 75% of people with Marfan Syndrome inherited it from a parent; in the other cases, it was the result of a “spontaneous mutation”, meaning that it happened randomly.

My family and I always thought that I had gotten my tissue disorder spontaneously and not by inheriting it from a parent; but, as the years go by I often wonder if I may have inherited it from my mom. Throughout her life – especially into adulthood – she’s suffered from a lot of unexplained health and chronic pain issues and some of them – like her sporadic knee dislocations as a teenager – could very well be connective tissue disorder related problems. Because of this possibility and the serious dangers of unchecked heart issues in tissue disorders she did undergo an echo just to be safe – which thankfully came back fine. But, despite her heart and eyes being okay to date, I will always wonder if she has the same disorder as me.

No one else in my family has symptoms suggestive of a tissue disorder, so in any case it seems to have either started with me or my mom. That’s one reason I wish that my genetic test for Marfan Syndrome had come back positive: so that we could’ve then tested my mom for the same  gene mutation, and maybe finally given her some answers as to why she’s had so many health and pain problems. She’s gone more than long enough without getting any and I’d really like that to change. Not that I’d want her to have my disorder, but she’s dealing with chronic pain and health issues regardless and at least then we’d know why. ♥

Visit www.marfan.org for more information.

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Happy Valentines Day everyone. ♥

Much love to you all and thanks for checking in for another Marfact.

– Katie

Marfact #13

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #13: A person with Marfan syndrome has a 50% chance of passing it on to each child. It does not skip generations.

To add to this fact: There are no unaffected “carriers” of the Marfan causing gene mutation, due to the fact that it’s an Autosomal dominant disorder. This means that if a parent has the disorder you will have a 50% chance of either inheriting Marfan Syndrome from them and having the same 50% chance of passing it on to your own future child/ren or you won’t have the disorder and there will be no risk of your child getting it (at least no more risk than in the general population).

Visit www.marfan.org for more information.

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Hopefully all of the above makes sense – I’m not too great at explaining anything genetic on the best of days and right now I’m running on almost no sleep.

Hugs to you all,
Thanks for reading! ♥

– Katie

Marfact #3

*My apologies ahead of time if this post is poorly written. I’m functioning on such a small amount of sleep that it’s a wonder I can type at all.* ☺  

Most of you probably remember how this goes from me doing it last year, but for those of you who are new to Tissue Tales: In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day in the hopes of helping to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

For anyone who would like to help raise awareness, the MF has also put together a really handy social media toolkit that you can find by clicking here. The toolkit has ready-to-use tweets, email signatures, and more.

So, without further ado – and before I can’t even prop my eyelids open with my fingers – here’s today’s Marfan-related fact:

Marfact #3: Without a diagnosis and treatment, people with Marfan syndrome and related disorders are at risk of a sudden early death. But with an early diagnosis and treatment, they can live a normal lifespan.

Visit www.marfan.org for more information.

Have heart for Marfan Syndrome!

Hopefully tomorrow, once I’ve gotten some sleep, I’ll be able to update on how my doctor appointment this morning went.

For now, thanks for sticking around to learn more about MFS and how it effects me!

Much love ♥

-Katie